PALB2 K346Tfs*13
Gene Variant Detail

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Gene PALB2
Variant K346Tfs*13
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PALB2 K346Tfs*13 indicates a shift in the reading frame starting at amino acid 346 and terminating 13 residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). K346Tfs*13 has not been characterized, however, due to the effects of other truncation mutations downstream of K346 (PMID: 31757951, PMID: 31636395), is predicted to lead to a loss of Palb2 protein function.
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 inact mut PALB2 K346Tfs*13

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Transcript NM_024675.4
gDNA chr16:g.23635511_23635512insTTGGGGTT
cDNA c.1036_1037insCCCCAAAA
Protein p.K346Tfs*13
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407310.1 chr16:g.23630234_23630235insTGGGGGGGGGGTT c.1036_1037insCCCCCCCCCCAAA p.K346Tfs*13 RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23635511_23635512insTTGGGGTT c.1036_1037insCCCCAAAA p.K346Tfs*13 RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23635511_23635512insTTGGGGTT c.1036_1037insCCCCAAAA p.K346Tfs*13 RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23635511_23635512insTTGGGGTT c.1036_1037insCCCCAAAA p.K346Tfs*13 RefSeq GRCh38/hg38
NM_001407306.1 chr16:g.23630234_23630235insTGGGGGGGGGGTT c.1036_1037insCCCCCCCCCCAAA p.K346Tfs*13 RefSeq GRCh38/hg38
XM_017023673 chr16:g.23635509_23635510insGACAGGGG c.1036_1037insCCCCTGTC p.K346Tfs*13 RefSeq GRCh38/hg38
XM_011545948.2 chr16:g.23630234_23630235insTGGGGGGGGGGTT c.1036_1037insCCCCCCCCCCAAA p.K346Tfs*13 RefSeq GRCh38/hg38
NM_001407307.1 chr16:g.23630234_23630235insTGGGGGGGGGGTT c.1036_1037insCCCCCCCCCCAAA p.K346Tfs*13 RefSeq GRCh38/hg38
XM_011545948 chr16:g.23630232_23630233insACTGGGGGGGGGG c.1036_1037insCCCCCCCCCCAGT p.K346Tfs*13 RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23635511_23635512insTTGGGGTT c.1036_1037insCCCCAAAA p.K346Tfs*13 RefSeq GRCh38/hg38
NM_001407304.1 chr16:g.23630234_23630235insTGGGGGGGGGGTT c.1036_1037insCCCCCCCCCCAAA p.K346Tfs*13 RefSeq GRCh38/hg38
XM_017023672 chr16:g.23635509_23635510insGACAGGGG c.1036_1037insCCCCTGTC p.K346Tfs*13 RefSeq GRCh38/hg38
NM_001407311.1 chr16:g.23630234_23630235insTGGGGGGGGGGTT c.1036_1037insCCCCCCCCCCAAA p.K346Tfs*13 RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23635511_23635512insTTGGGGTT c.1036_1037insCCCCAAAA p.K346Tfs*13 RefSeq GRCh38/hg38
XM_017023672.2 chr16:g.23635511_23635512insTTGGGGTT c.1036_1037insCCCCAAAA p.K346Tfs*13 RefSeq GRCh38/hg38
NM_001407305.1 chr16:g.23630234_23630235insTGGGGGGGGGGTT c.1036_1037insCCCCCCCCCCAAA p.K346Tfs*13 RefSeq GRCh38/hg38
NM_001407308.1 chr16:g.23630234_23630235insTGGGGGGGGGGTT c.1036_1037insCCCCCCCCCCAAA p.K346Tfs*13 RefSeq GRCh38/hg38
NM_024675 chr16:g.23635509_23635510insGACAGGGG c.1036_1037insCCCCTGTC p.K346Tfs*13 RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23635511_23635512insTTGGGGTT c.1036_1037insCCCCAAAA p.K346Tfs*13 RefSeq GRCh38/hg38
NM_001407309.1 chr16:g.23630234_23630235insTGGGGGGGGGGTT c.1036_1037insCCCCCCCCCCAAA p.K346Tfs*13 RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23635511_23635512insTTGGGGTT c.1036_1037insCCCCAAAA p.K346Tfs*13 RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23635511_23635512insTTGGGGTT c.1036_1037insCCCCAAAA p.K346Tfs*13 RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23635511_23635512insTTGGGGTT c.1036_1037insCCCCAAAA p.K346Tfs*13 RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PALB2 K346Tfs*13 pancreatic ductal adenocarcinoma predicted - sensitive Fluorouracil + Oxaliplatin + Veliparib Case Reports/Case Series Actionable In a Phase I/II trial, Veliparib (ABT-888) in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) resulted in a partial response in a patient with metastatic pancreatic ductal adenocarcinoma harboring germline PALB2 K346Tfs*13 (reported as c.1037_1041delAAGAA) (PMID: 32669374; NCT01489865). 32669374